A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6925038



Internal ID10031664
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:74563286..74563727hg38UCSC Ensembl
Outerchr17:72559425..72559866hg19UCSC Ensembl
Cytoband17q25.1
Allele length
AssemblyAllele length
hg38442
hg19442
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2716225, esv2716226
Supporting Variants
SamplesSSM018
Known Genes
MethodSequencing
AnalysisBreakdancer:4 times standard deviation,VariationHunter:4 times standard deviation and at least 3 supportting reads
PlatformIllumina HiSeq 2000
Comments
ReferenceWong_et_al_2012b
Pubmed ID23290073
Accession Number(s)essv6925038
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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